Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome
Developmental delay, hypotrophy, and dysmorphic features without moebius syndrome
Definition
A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has material basis in homozygous ultra-rare REV3L variant (T2753R).
Also identified as
- DOID 0081264 per MONDO